immunodysregulation with variable immunodeficiency and autoimmunity

Term ID

DOID:0070797

Synonyms

• IMDIA

Definition

An immune system disease characterized by variable manifestations ranging from immunodeficiency, including recurrent respiratory infections and chronic fungal or viral infections often associated with lymphopenia and hypogammaglobulinemia, to features of a primary immune regulatory disorder, including autoimmunity, autoinflammation, lymphoproliferation, systemic lupus erythematosus, and EBV-associated hemophagocytic lymphohistiocytosis, that has_material_basis_in putative loss-of-function mutation in the IKZF2 gene on chromosome 2q34. (2)

References

• MIM:621233
• ORDO:697389
• SNOMEDCT_US_2026_03_01:1351801008
• UMLS_CUI:C5968970
• UMLS_CUI:C6012736

Ontology

Human Disease   ( DOID:0070797 )